A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428207



Internal ID18277971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142632040..142732118hg38UCSC Ensembl
Innerchr8:143713401..143813536hg19UCSC Ensembl
Innerchr8:143710403..143810538hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38100079
hg19100136
hg18100136
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451600, nssv451596, nssv451594, nssv451595, nssv451599, nssv451597
SamplesNA18498, HGDP00476, NA19189, NA19181, NA19113, HGDP00474
Known GenesJRK, LOC100288181, LY6K, PSCA, THEM6
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428207
Frequency
Sample Size62
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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